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      Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients

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          Abstract

          In approximately half of congenital hypogonadotropic hypogonadism (cHH) patients, the genetic cause remains unidentified. Since the lack of certain miRNAs in animal models has led to cHH, we sequenced human miRNAs predicted to regulate cHH-related genes ( MIR7-3, MIR141, MIR429 and MIR200A-C) in 24 cHH patients with Sanger sequencing. A heterozygous variant in MIR200A (rs202051309; general population frequency of 0.02) was found in one patient. Our results suggest that mutations in the studied miRNAs are unlikely causes of cHH. However, the complex interplay between miRNAs and their target genes in these diseases requires further investigations.

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          Mutation altering the miR-184 seed region causes familial keratoconus with cataract.

          Anne E. Hughes, Declan T. Bradley, Malcolm Campbell … (2011)
          MicroRNAs (miRNAs) bind to complementary sequences within the 3' untranslated region (UTR) of mRNAs from hundreds of target genes, leading either to mRNA degradation or suppression of translation. We found that a mutation in the seed region of miR-184 (MIR184) is responsible for familial severe keratoconus combined with early-onset anterior polar cataract by deep sequencing of a linkage region known to contain the mutation. The mutant form fails to compete with miR-205 (MIR205) for overlapping target sites on the 3' UTRs of INPPL1 and ITGB4. Although these target genes and miR-205 are expressed widely, the phenotype is restricted to the cornea and lens because of the very high expression of miR-184 in these tissues. Our finding highlights the tissue specificity of a gene network regulated by a miRNA. Awareness of the important function of miRNAs could aid identification of susceptibility genes and new therapeutic targets for treatment of both rare and common diseases. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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            miR-200b and miR-429 function in mouse ovulation and are essential for female fertility.

            Hidetoshi Hasuwa, Jun Ueda, Masahito Ikawa … (2013)
            Ovulation in the mouse and other mammals is controlled by hormones secreted by the hypothalamo-pituitary-ovarian axis. We describe anovulation and infertility in female mice lacking the microRNAs miR-200b and miR-429. Both miRNAs are strongly expressed in the pituitary gland, where they suppress expression of the transcriptional repressor ZEB1. Eliminating these miRNAs, in turn, inhibits luteinizing hormone (LH) synthesis by repressing transcription of its β-subunit gene, which leads to lowered serum LH concentration, an impaired LH surge, and failure to ovulate. Our results reveal roles for miR-200b and miR-429, and their target the Zeb1 gene, in the regulation of mammalian reproduction. Thus, the hypothalamo-pituitary-ovarian axis was shown to require miR-200b and miR-429 to support ovulation.
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              Members of the miRNA-200 Family Regulate Olfactory Neurogenesis

              Philip Choi, Lisa Zakhary, Wen-Yee Choi … (2008)
              Summary MicroRNAs (miRNAs) are highly expressed in vertebrate neural tissues, but the contribution of specific miRNAs to the development and function of different neuronal populations is still largely unknown. We report that miRNAs are required for terminal differentiation of olfactory precursors in both mouse and zebrafish but are dispensable for proper function of mature olfactory neurons. The repertoire of miRNAs expressed in olfactory tissues contains over 100 distinct miRNAs. A subset, including the miR-200 family, shows high olfactory enrichment and expression patterns consistent with a role during olfactory neurogenesis. Loss of function of the miR-200 family phenocopies the terminal differentiation defect observed in absence of all miRNA activity in olfactory progenitors. Our data support the notion that vertebrate tissue differentiation is controlled by conserved subsets of organ-specific miRNAs in both mouse and zebrafish and provide insights into control mechanisms underlying olfactory differentiation in vertebrates.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Endocr Connect
                Journal ID (iso-abbrev): Endocr Connect
                Journal ID (hwp): EC
                Title: Endocrine Connections
                Publisher: Bioscientifica Ltd (Bristol )
                ISSN (Electronic): 2049-3614
                Publication date Collection: May 2019
                Publication date (Electronic): 29 March 2019
                Volume: 8
                Issue: 5
                Pages: 506-509
                Affiliations
                [1 ]Institute of Biomedicine/Physiology , Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland
                [2 ]New Children’s Hospital , Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland
                Author notes
                Correspondence should be addressed to T Raivio: taneli.raivio@ 123456helsinki.fi
                Article
                Publisher ID: EC-19-0080
                DOI: 10.1530/EC-19-0080
                PMC ID: 6479198
                PubMed ID: 30999277
                SO-VID: e7271dd9-044a-4e0c-9383-4f8518b94d68
                Copyright © © 2019 The authors
                License:

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

                History
                Date received : 27 March 2019
                Date accepted : 29 March 2019
                Categories
                Subject: Research

                Keywords: microrna,mutation,hypogonadotropic hypogonadism,kallmann syndrome
                Data availability:
                Keywords: microrna, mutation, hypogonadotropic hypogonadism, kallmann syndrome

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